Specificity and sensitivity of RHD genotyping methods by PCR-based DNA amplification

British Journal of Haematology

Volumn 98, Issue 2, 1997, Pages 356-364

  Aubin, Jean Thierry ^a   Le Van Kim, Caroline ^b   Mouro, Isabelle ^b   Colin, Yves ^b   Bignozzi, Christiane ^a   Brossard, Yvon ^a   Cartron, Jean Pierre ^b  

^a Ctr d'Hemobiologie Perinale   (France)

^b INSTITUT NATIONAL DE LA TRANSFUSION SANGUINE   (France)

Author keywords

Antenatal diagnostic; Blood groups; D genotyping; RH genes

Indexed keywords

ADULT; ARTICLE; DIAGNOSTIC ACCURACY; DIAGNOSTIC APPROACH ROUTE; DNA DETERMINATION; FEMALE; FETUS; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; NEWBORN HEMOLYTIC DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 8544236207     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1997.2193040.x     Document Type: Article

References (45)

1. Anstee, D.J. & Tanner, M.J.A. (1993) Biochemical aspects of the blood group Rh (Rhesus) antigens. Bailliere's Clinical Haematology, 6, 401-422.
2. Arce, M., Thompson, E.S., Wagner, S., Coyne, K.E., Ferdman, B.A. & Lublin, D.M. (1993) Molecular cloning of RhD cDNA derived from a gene present in RhD-positive, but not RhD-negative individuals. Blood, 82, 651-655.
3. VIccEe phenotypes. Blood, 89, 1779-1786.
4. Beckers, E.A.M., Faas, B.H.W., von dem Borne, A.E.G., Overbeeke, M.A.M., van Rhenen, D.J. & van der Schoot, C.E. (1996) The ROHar:Rh33 phenotype results from substitution of exon 5 of the RHCE gene by the corresponding exon of the RHD gene. British Journal of Haematology, 92, 751-757.
5. Bennett, P.R., Le Van Kim, C., Colin, Y., Warwick, R.M., Cherif-Zahar, B., Fisk, N.M. & Cartron, J.P. (1993) Prenatal determination of fetal RhD type by DNA amplification. New England Journal of Medicine, 329, 607-610.
6. Blunt, T., Daniels, G. & Carritt, B. (1994) Serotype switching in a partially deleted RHD gene. Vox Sanguinis, 67, 397-401.
7. Brambati, B., Anelli, M.C., Tului, L. & Colombo, G. (1994) Fetal RhD typing by DNA amplification in chorionic villus sample. Lancet, 344, 959-960.
8. Carritt, B., Steers, F.J. & Avent, N.D. (1994) Prenatal determination of fetal RhD type. Lancet, 344, 205-206.
9. Cartron, J.P. (1994) Defining the Rh blood group antigens; biochemistry and molecular genetics. Blood Reviews, 8, 199-212.
10. Cartron, J.P. & Agre, P. (1993) Rh blood group antigens: protein and gene structure. Seminars in Hematology, 30, 193-208.
11. Cartron, J.P., Rouillac, C., Le van Kim, C., Mouro, I. & Colin, Y. (1996) Tentative model for the mapping of D epitopes on the RhD polypeptide. Transfusion Clinique et Biologique, 6, 497-503.
12. Chavez, G.F., Mulinare, J. & Edmonds, L.D. (1991) Epidemiology of Rh hemolytic disease of the newborn in the United States. Journal of the American Medical Association, 265, 3270-3274.
13. Chérif-Zahar, B., Bloy, C., Le Van Kim, C., Blanchard, D., Bailly, P., Hermand, P., Salmon, C., Cartron, J.P. & Colin, Y. (1990) Molecular cloning and protein structure of a human blood group Rh polypeptide. Proceedings of the National Academy of Sciences of the United States of America, 87, 6243-6247.
14. Chérif-Zahar, B., Le Van Kim, C., Rouillac, C., Raynal, V., Cartron, J.P. & Colin, Y. (1994) Organization of the gene (RHCE) encoding the human blood group CcEe antigens and characterization of the promoter region. Genomics, 19, 68-74.
15. Chérif-Zahar, B., Raynal, V., Le Van Kim, C., D'Ambrosio, A.M., Bailly, P., Cartron, J.P. & Colin, Y. (1993) Structure and expression of the RH locus in the Rh-deficiency syndrome. Blood, 82, 656-662.
16. Clarke, S.C. & Hussey, R.M. (1994) Decline in deaths from Rhesus haemolytic disease of the newborn. Journal of the Royal College of Physicians of London, 28, 310-311.
17. Colin, Y., Chérif-Zahar, B., Le Van Kim, C., Raynal, V., Van Huffel, V. & Cartron, J.P. (1991) Genetic basis of the RhD-positive and RhD-negative blood group polymorphism as determined by Southern analysis. Blood, 78, 2747-2752.
18. Faas, B.H.W., Beckers, E.A.M., Wildoer, P., Ligthart, P.C., Overbeeke, M.A.M., Zondervan, H.A., von dem Borne, A.E.G. & van der Schoot, C.E. (1997) Molecular background of VS and weak C expression in Blacks. Transfusion, 37, 38-44.
19. VI category erythrocytes: correlation of the phenotype with a novel hybrid RhD-CE-D gene but not an internally deleted RhD gene. Blood, 89, 1834-1839.
20. Huang, C.H., Reid, M.E., Chen, Y., Coghlan, G. & Okubo, Y. (1996) Molecular definition of red cell Rh haplotypes by tightly linked Sphl RFLPs. American Journal of Human Genetics, 58, 133-142.
21. Hughes, R.G., Craig, J.L.O., Murphy, W.G. & Greer, I.A. (1994) Causes and clinical consequences of Rhesus(D) haemolytic disease of the newborn: a study of a Scottish population. British Journal of Obstetrics and Gynaecology, 101, 297-300.
22. Hyland, C.A., Wolter, L.C., Liew, Y.W. & Saul, A. (1994a) A Southern analysis of Rh blood group genes: association between restriction fragment length polymorphism and Rh serotypes. Blood, 83, 566-572.
23. Hyland, C.A., Wolter, L.C. & Saul, A. (1994b) Three unrelated RhD gene polymorphisms identified among blood donors with Rhesus CCee (r′r′) phenotypes. Blood, 84, 321-324.
24. Lacey, P.A., Caskey, C.R., Werner, D.J. & Moulds, J.J. (1983) Fatal hemolytic disease of a newborn due to anti-D in a Rh-positive Du variant mother. Transfusion, 23, 91-94.
25. Le Van Kim, C., Mouro, I., Chérif-Zahar, B., Raynal, V., Cherrier, C., Cartron, J.P. & Colin, Y. (1992) Molecular cloning and primary structure of the human blood group RhD polypeptide. Proceedings of the National Academy of Sciences of the United States of America, 89, 10925-10929.
26. Le Van Kim, C., Mouro, I., Brossard, Y., Chavinié, J., Cartron, J.P. & Colin, Y. (1994) PCR-based determination of Rhc and RhE status of fetuses at risk of Rhc and RhE haemolytic disease. British Journal of Haematology, 88, 193-195.
27. Lo, Y.M.D., Bowell, P.J., Selinger, M., Mackenzie, I.Z., Chamberlin, P., Gillmer, M.D.G., Littlewood, T.J., Fleming, K.A. & Wainscoat, J.S. (1993) Prenatal determination of fetal RhD status by analysis of peripheral blood of rhesus negative mothers. Lancet, 341, 1147-1148.
28. Va. British Journal of Haematology, 76, 537-539.
29. Mollison, P.L., Engelfriet, C.P. & Contreras, M. (1987) Haemolytic disease of the newborn, Blood Transfusion in Clinical Medicine, pp. 543-591. Blackwell Scientific Publications, Oxford.
30. Gr variant. British Journal of Haematology, 93, 472-474.
31. VI category phenotype. Blood, 83, 1129-1135.
32. Poissonnier, M.H., Brossard, Y., Demedeiros, N. Vassileva, J., Parnet, F., Larsen, M., Gosset, M., Chavinie, J. & Huchet, J. (1989) Two hundred intrauterine exchange transfusions in severe blood incompatibilities. American Journal of Obstetrics and Gynecology, 161, 709-713.
33. Pope, J., Navarrete, C., Warwick, R. & Contreras, M. (1995) Multiplex PCR analysis of RhD gene. Lancet, 346, 375-376.
34. Race, R.R. & Sanger, R. (1975) Blood Groups in Man, pp. 178-260. Blackwell Scientific Publications, Oxford.
35. Rouillac, C., Colin, Y., Hughes-Jones, N.C., Beolet, M., U'Ambrosio, A.M., Cartron, J.P. & Le Van Kim, C. (1995a) Transcript analysis of D category phenotypes predicts hybrid Rh D-CE-D proteins associated with alteration of D epitopes. Blood, 85, 2937-2944.
36. N phenotypes. Blood, 87, 4853-4861.
37. II category blood group phenotype. American Journal of Hematology, 49, 87-88.
38. b erythrocytes is associated with segmental DNA exchange between RH genes. British Journal of Haematology, 89, 424-426.
39. Saiki, R.K., Scharf, S., Faloona, F., Mullis, K.B., Horn, G.T., Erlich, M.A. & Arnheim, N. (1985) Enzymatic amplification of β-globin genomic sequences and restriction analysis for diagnosis of sickle cell anemia. Science, 230, 1350-1354.
40. Sambrook, J., Fritsch, E.F. & Maniatis, T. (1989) Molecular Cloning, 2nd edn. Cold Spring Harbor Laboratory, New York.
41. Simsek, S., Blecker, P.M.N. & von dem Borne, A.E.K.G. (1994) Prenatal determination of fetal RhD type. New England Journal of Medicine, 330, 795-796.
42. Simsek, S., Faas, B.H.W., Bleeker, P.M.M., Overbeeke, M.A.M., Cuijpers, H.T.H.M., van der Schoot, C.E. & von dem Borne, A.E.G. (1995) Rapid RhD genotyping by polymerase chain reaction-based amplification of DNA. Blood, 85, 2975-2980.
43. Spence, W.C., Maddalena, A., Demers, D. & Bick, D.P. (1995) Molecular analysis of the RhD genotype in fetuses at risk for RhD hemolytic disease. Obstetrics and Gynecology, 85, 296-298.
44. Umenishi, F., Kajii, E. & Ikemoto, S. (1994) Molecular analysis of Rh polypeptides in a family with RhD positive and RhD-negative phenotypes. Biochemical Journal, 229, 207-211.
45. Van den Veyver, I.B., Chong, S.S., Cota, J., Bennett, P.R., Fisk, N.M., Handyside, A.H., Cartron, J.P., Le Van Kim, C., Colin, Y., Snabes, M.C., Moise, K. & Hughes, M.R. (1995) Single cell analysis of the Rhesus D blood type for use in preimplantation diagnosis in the prevention of severe hemolytic disease of the newborn. American Journal of Obstetrics and Gynecology, 172, 533-540.